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Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R, Efthymiou S, Suri M, Rahman F, Zaki MS, Maqbool S, Anwa N, Ruiz-Pérez VL, Yanovsky-Dagan S, Elpeleg O, Sudhakar S, Mankad K, Harel T, Houlden H. Maroofian R, et al. Among authors: mankad k. J Med Genet. 2023 Aug;60(8):791-796. doi: 10.1136/jmg-2022-108566. Epub 2022 Dec 29. J Med Genet. 2023. PMID: 36581449 Free PMC article.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M, Kaliakatsos M, Valentine J, Nemeth AH, Jayawant S, Reid KM, Mankad K, Sudhakar S, Ben-Pazi H, Barwick K, Kurian MA. Steel DBD, et al. Among authors: mankad k. Neurology. 2023 May 23;100(21):e2214-e2223. doi: 10.1212/WNL.0000000000207241. Epub 2023 Apr 11. Neurology. 2023. PMID: 37041080 Free PMC article.
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course.
Abdel-Mannan O, Champsas D, Tur C, Lee V, Manivannan S, Usman H, Skippen A, Desai I, Chitre M, Forsyth R, Kneen R, Ram D, Ramdas S, Rossor T, West S, Wright S, Palace J, Wassmer E, Hemingway C, Lim MJ, Mankad K, Ciccarelli O, Hacohen Y; UK-Childhood Neuroinflammatory Disease Network. Abdel-Mannan O, et al. Among authors: mankad k. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):426-433. doi: 10.1136/jnnp-2023-332542. J Neurol Neurosurg Psychiatry. 2024. PMID: 37979966
The 'Absent/Dysgenetic ALIC Sign' in Tubulinopathies.
Mankad K, Chatur C, Balani A. Mankad K, et al. Neurol India. 2022 Sep-Oct;70(5):2328-2329. doi: 10.4103/0028-3886.359182. Neurol India. 2022. PMID: 36352701 Free article. No abstract available.
Extraocular Orbital and Peri-Orbital Masses.
Biswas A, Wong OY, Aygun B, Gore S, Mankad K. Biswas A, et al. Among authors: mankad k. Neuroimaging Clin N Am. 2023 Nov;33(4):643-659. doi: 10.1016/j.nic.2023.05.012. Epub 2023 Jul 1. Neuroimaging Clin N Am. 2023. PMID: 37741663 Review.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: mankad k. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
2021 MAGNIMS-CMSC-NAIMS consensus recommendations on the use of MRI in patients with multiple sclerosis.
Wattjes MP, Ciccarelli O, Reich DS, Banwell B, de Stefano N, Enzinger C, Fazekas F, Filippi M, Frederiksen J, Gasperini C, Hacohen Y, Kappos L, Li DKB, Mankad K, Montalban X, Newsome SD, Oh J, Palace J, Rocca MA, Sastre-Garriga J, Tintoré M, Traboulsee A, Vrenken H, Yousry T, Barkhof F, Rovira À; Magnetic Resonance Imaging in Multiple Sclerosis study group; Consortium of Multiple Sclerosis Centres; North American Imaging in Multiple Sclerosis Cooperative MRI guidelines working group. Wattjes MP, et al. Among authors: mankad k. Lancet Neurol. 2021 Aug;20(8):653-670. doi: 10.1016/S1474-4422(21)00095-8. Epub 2021 Jun 14. Lancet Neurol. 2021. PMID: 34139157 Review.
275 results